Spastic paraplegia in Romania: high prevalence of SPG4 mutations

J Neurol Neurosurg Psychiatry. 2008 May;79(5):606-7. doi: 10.1136/jnnp.2007.128827. Epub 2007 Oct 30.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • Adult
  • Age of Onset
  • Aged
  • Chromosome Aberrations*
  • Chromosome Deletion
  • Codon, Nonsense / genetics
  • Cross-Sectional Studies
  • DNA Mutational Analysis*
  • Female
  • Frameshift Mutation / genetics
  • Genes, Dominant / genetics*
  • Genetic Carrier Screening
  • Genetics, Population*
  • Humans
  • Male
  • Middle Aged
  • Mutagenesis, Insertional / genetics
  • Mutation, Missense / genetics
  • Phenotype
  • RNA Splice Sites / genetics
  • Spastic Paraplegia, Hereditary / epidemiology
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastin

Substances

  • Codon, Nonsense
  • RNA Splice Sites
  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human